Today, Parent Advocate and Founder of Two Smiles One Hope Foundation, Alison Willis and I represented the Duchenne community at the Congressional Rare Disease Caucus Briefing in Washington, DC. Alison did a remarkable job speaking on behalf of PPMD regarding the Patient Participation in Medical Product Discussions Provision within the newly passed Food and Drug Administration Safety and Innovation Act(FDASIA or PDUFA V). The briefing was organized by Rare Disease Legislative Advocates (RDLA). Rare Disease Legislative Advocates (RDLA) is a collaborative organization designed to support the advocacy of all rare disease groups. Earlier this year, PPMD worked closely with RDLA to ensure the most important rare disease provisions were included in the final version of FDASIA.

Thank you very much to Congressmen Leonard Lance and Joe Crowley, the co-chairs of the Congressional Rare Disease Caucus, for hosting this important briefing. Also thank you very much to Rare Disease Legislative Advocates (RDLA), the National Health Council, and Shire for organizing this event.

And thank you to all of the staff for taking time out of your busy schedule to attend this session during what we all know is a most eventful week here on Capitol Hill.

As a parent of two boys living with Duchenne Muscular Dystrophy, I am very grateful for the number of provisions contained within the recently enacted FDA Safety and Innovation Act or FDASIA that empower the agency with the authority and tools it needs to more expeditiously review potential therapies for serious and life-threatening conditions, particularly when no other alternative treatments exist.

From provisions to strengthen and enhance existing Fast Track and Accelerated Review authorities to establishment of a new Breakthrough Therapies category to deeper and more robust engagement of outside scientific experts and patients, Congress should be commended for your efforts.

But as you all know, while enacting a bill into law is critical, the devil is in the regulation, particularly on complex FDA topics that will require a host of new guidance.

Before I touch on this key point, I want to first make it abundantly clear what has driven me to commit to advocacy and come to Washington today.

I am a resident of Fayetteville which is a small town in central New York. I am a pharmacist by profession, and my husband Matt and I are the proud parents of three wonderful boys – Caleb, age 13 and 11-year-old twins Nolan and Jack, both of whom have Duchenne.

In addition to advocating with Parent Project Muscular Dystrophy, we have founded a small foundation called Two Smiles One Hope that funds groundbreaking research in the pursuit of treatments and therapies for Duchenne.

Duchenne is the most common form of Muscular Dystrophy, a form that affects almost entirely boys because it impacts the X chromosome. The disease keeps muscles from producing the Dystrophin protein that is essential for building strong muscles. And when muscles cannot rebuild, they slowly atrophy, leading to loss of ambulation and eventually loss of all use.

For years, the only therapy for patients with Duchenne has been steroids,which are not effective for long-lasting improvement and which result in a number of side effects.

While no therapy has yet to be approved for Duchenne, the community and our family is full of hope as nearly 20 potential therapies are in various stages of clinical testing and evaluation, and a number of additional potential therapies are in early stages of development.

This past fall has been a particularly hopeful time, with multiple companies including Summit, Prosensa and Sarepta all announcing promising news.

Perhaps most encouraging is the news from Sarepta that its candidate therapy, Eteplirsen, had produced statistically significant levels of Dystrophin in patients participating in the Phase IIb clinical trial. In addition to showing increased levels of Dystrophin, the study also found a significant clinical improvement as measured by the 6-minute walk test standard.

Both Jack and Nolan participated in this trial. I would love to discuss the details of our experiences during the trial with anyone who is interested after this briefing. The main point I would like to drive home about Eteplirsen is that there is a finite window of opportunity here for these boys. For maximum benefit, it is imperative that these boys receive the drug as early as deemed necessary. As illustrated quite clearly by my own sons' results at the end of the first 24 weeks, there is a tipping point before which Eteplirsen should be dosed. Although Jack and Nolan qualified without issue for this trial, they showed the most deterioration from the start, therefore; their loss of ambulation during the trial came to no great surprise. The progress that the other 10 participants are achieving is phenomenal. They continue to progress to this day.

As you can imagine, this news has left many of us in the Duchenne campaign quite eager and optimistic, particularly as Sarepta prepares to move forward as quickly as possible in submitting its data to the FDA, which brings us right back to the reforms Congress included in the FDASIA law.

While the ball is presently in Sarepta's court as it prepares for the filing, once their application arrives at FDA, it is critical that it be reviewed as expeditiously as possible because no alternative treatments or therapies exist and the disease is 100% fatal. The drug should therefore qualify as a breakthrough therapy. Our community is counting on FDA's "patient-focused drug development" initiative to move these interests forward.

In addition to prompt review, we trust FDA will take into account the views of patients and/or their parents/guardians, in the case of minors, particularly when it comes to the all-important issue of assessing levels of benefit and risk offered by a therapy.

To help better inform FDA on this most important issue, PPMD is developing a survey tool to gather the input from the Duchenne community as to how we see this benefit/risk issue and what levels of risk we would be willing to accept. The findings will in turn be presented to FDA to help inform how they consider reviews of potential therapies by providing a natural history "yardstick" for later comparisons.

In the coming months, PPMD will continue to engage constructively with FDA and will be closely following the implementation of FDASIA. We will be working to ensure that the proposed and final regulations achieve the desired objectives so that the programs and tools can accelerate the pace of review at FDA and, hopefully, hasten delivery of safe and effective treatments to patients.

I encourage all of you to work with your bosses to keep a very close eye on the guidance and regulatory process to make sure FDA meets all of its deadlines. PPMD has compiled a timeline of key dates and milestones, and we would be happy to work with the caucus and others to assist in conducting the valuable and necessary oversight to ensure the intentions of FDASIA are realized.

Thank you, again, for the time and energies you are dedicating to this most important issue.